{"Name":"Glycogen storage disease type 1 due to SLC37A4 mutation","DiseaseID__c":"GARD:0002501","id":2501,"encodedName":"glycogen-storage-disease-type-1-due-to-slc37a4-mutation","IsDeleted":false,"Disease_Name_Full__c":"Glycogen storage disease type 1 due to SLC37A4 mutation","Xref_IDs__c":"C2931345; C536831; MEDGEN:419390; MONDO:0023258","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":0,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":1,"Disease_Characteristics_Score__c":2,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0023258","Disease_Description__c":"Any glycogen storage disease due to glucose-6-phosphatase deficiency in which the cause of the disease is a mutation in the SLC37A4 gene.","GARD_Name__c":"Glycogen storage disease type 1 due to SLC37A4 mutation","GARD_Synonym__c":"g6p translocase deficiency; glucose-6-phosphate translocase deficiency; glycogen storage disease i caused by mutation in slc37a4; slc37a4 glycogen storage disease i","Curated_Disease_Description_Source__c":"MONDO:0023258","Curated_Disease_Description__c":"Any glycogen storage disease due to glucose-6-phosphatase deficiency in which the cause of the disease is a mutation in the SLC37A4 gene.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":null,"Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0023258","ORPHANET_ID__c":null,"Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":null,"Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":null,"Spanish_GARD_Synonym__c":null,"Category_Linearization__c":null,"icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"Any glycogen storage disease due to glucose-6-phosphatase deficiency in which the cause of the disease is a mutation in the SLC37A4 gene.","Curated_Disease_Description_Source__c":"MONDO:0023258","GARD_Synonym__c":"g6p translocase deficiency; glucose-6-phosphate translocase deficiency; glycogen storage disease i caused by mutation in slc37a4; slc37a4 glycogen storage disease i","Name":"Glycogen storage disease type 1 due to SLC37A4 mutation","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Association for Glycogen Storage Disease","Website__c":"https://www.agsdus.org"},{"Account_Name__c":"Association for Glycogen Storage Disease UK","Website__c":"https://www.agsd.org.uk/"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C2931345","Source__c":"C2931345","Xref__c":"C2931345"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=419390","Source__c":"C2931345","Xref__c":"MEDGEN:419390"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536831","Source__c":"MONDO:0023258","Xref__c":"C536831"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0023258","Source__c":"GARD:0002501","Xref__c":"MONDO:0023258"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"SLC37A4","GHR_URL__c":"https://medlineplus.gov/genetics/gene/slc37a4","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"tags":{},"synonyms":["g6p translocase deficiency"," glucose-6-phosphate translocase deficiency"," glycogen storage disease i caused by mutation in slc37a4"," slc37a4 glycogen storage disease i"]}